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Cover, Volume 41, Issue 9.
- Published in:
- Human Mutation, 2020, v. 41, n. 9, p. i, doi. 10.1002/humu.24098
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Biallelic loss‐of‐function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth.
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- Human Mutation, 2020, v. 41, n. 9, p. 1645, doi. 10.1002/humu.24071
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General population ZBTB18 missense variants influence DNA binding and transcriptional regulation.
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- Human Mutation, 2020, v. 41, n. 9, p. 1629, doi. 10.1002/humu.24069
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Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9‐year period.
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- Human Mutation, 2020, v. 41, n. 9, p. 1514, doi. 10.1002/humu.24064
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Response to "Should FANCL heterozygous pathogenic variants be considered as potentially causative of primary ovarian insufficiency?".
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- Human Mutation, 2020, v. 41, n. 9, p. 1700, doi. 10.1002/humu.24073
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Cover, Volume 41, Issue 8.
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- Human Mutation, 2020, v. 41, n. 9, p. ii, doi. 10.1002/humu.24099
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Mandibular‐pelvic‐patellar syndrome is a novel PITX1‐related disorder due to alteration of PITX1 transactivation ability.
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- Human Mutation, 2020, v. 41, n. 9, p. 1499, doi. 10.1002/humu.24070
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Should FANCL heterozygous pathogenic variants be considered as potentially causative of primary ovarian insufficiency?
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- Human Mutation, 2020, v. 41, n. 9, p. 1697, doi. 10.1002/humu.24077
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Long‐term uninterrupted enzyme replacement therapy prevents liver disease in murine model of severe homocystinuria.
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- Human Mutation, 2020, v. 41, n. 9, p. 1662, doi. 10.1002/humu.24072
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Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders.
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- Human Mutation, 2020, v. 41, n. 9, p. 1615, doi. 10.1002/humu.24067
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Candidate genes for hereditary colorectal cancer: Mutational screening and systematic review.
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- Human Mutation, 2020, v. 41, n. 9, p. 1563, doi. 10.1002/humu.24057
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Genotype–phenotype associations in a large PRPH2‐related retinopathy cohort.
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- Human Mutation, 2020, v. 41, n. 9, p. 1528, doi. 10.1002/humu.24065
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Identification and characterization of novel rapidly mutating Y‐chromosomal short tandem repeat markers.
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- Human Mutation, 2020, v. 41, n. 9, p. 1680, doi. 10.1002/humu.24068
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Xdrop: Targeted sequencing of long DNA molecules from low input samples using droplet sorting.
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- Human Mutation, 2020, v. 41, n. 9, p. 1671, doi. 10.1002/humu.24063
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First clinical and myopathological description of a myofibrillar myopathy with congenital onset and homozygous mutation in FLNC.
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- Human Mutation, 2020, v. 41, n. 9, p. 1600, doi. 10.1002/humu.24062
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A single c.1715G>C calpain 3 gene variant causes dominant calpainopathy with loss of calpain 3 expression and activity.
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- Human Mutation, 2020, v. 41, n. 9, p. 1507, doi. 10.1002/humu.24066
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The genetic profile of dysferlinopathy in a cohort of 209 cases: Genotype–phenotype relationship and a hotspot on the inner DysF domain.
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- Human Mutation, 2020, v. 41, n. 9, p. 1540, doi. 10.1002/humu.24036
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Integrated multi‐omics data analyses for exploring the co‐occurring and mutually exclusive gene alteration events in colorectal cancer.
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- Human Mutation, 2020, v. 41, n. 9, p. 1588, doi. 10.1002/humu.24059
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An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy.
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- Human Mutation, 2020, v. 41, n. 9, p. 1577, doi. 10.1002/humu.24061
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Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines.
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- Human Mutation, 2020, v. 41, n. 9, p. 1555, doi. 10.1002/humu.24060
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AutoPVS1: An automatic classification tool for PVS1 interpretation of null variants.
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- Human Mutation, 2020, v. 41, n. 9, p. 1488, doi. 10.1002/humu.24051
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ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy.
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- Human Mutation, 2020, v. 41, n. 9, p. 1469, doi. 10.1002/humu.24056
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Issue Information.
- Published in:
- Human Mutation, 2020, v. 41, n. 9, p. 1465, doi. 10.1002/humu.23813
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- Article